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Entry version 168 (11 Dec 2019)
Sequence version 1 (01 Jun 2001)
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Protein

Melanophilin

Gene

MLPH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri64 – 107FYVE-typeAdd BLAST44

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandMetal-binding, Zinc

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Melanophilin
Alternative name(s):
Exophilin-3
Slp homolog lacking C2 domains a
Short name:
SlaC2-a
Synaptotagmin-like protein 2a
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MLPH
Synonyms:SLAC2A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000115648.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29643 MLPH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606526 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BV36

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Griscelli syndrome 3 (GS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01872435R → W in GS3; abolishes RAB27A binding. 1 PublicationCorresponds to variant dbSNP:rs119473031EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi14E → A: Abolishes RAB27A binding. 1 Publication1
Mutagenesisi24R → A: Decreases RAB27A binding. 1 Publication1
Mutagenesisi32E → A: Abolishes RAB27A binding. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
79083

MalaCards human disease database

More...
MalaCardsi
MLPH
MIMi609227 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115648

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79478 Griscelli syndrome type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134899891

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BV36 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MLPH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
32129730

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001902221 – 600MelanophilinAdd BLAST600

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BV36

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BV36

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BV36

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9BV36

PeptideAtlas

More...
PeptideAtlasi
Q9BV36

PRoteomics IDEntifications database

More...
PRIDEi
Q9BV36

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
33931
4492
79162 [Q9BV36-1]
79163 [Q9BV36-2]
79164 [Q9BV36-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BV36

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BV36

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115648 Expressed in 169 organ(s), highest expression level in parotid gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BV36 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BV36 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA014685

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds RAB27A that has been activated by GTP-binding via its N-terminus. Binds MYO5A via its C-terminal coiled coil domain.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122531, 10 interactors

Database of interacting proteins

More...
DIPi
DIP-44046N

Protein interaction database and analysis system

More...
IntActi
Q9BV36, 11 interactors

Molecular INTeraction database

More...
MINTi
Q9BV36

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000264605

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9BV36 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9BV36

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini4 – 124RabBDPROSITE-ProRule annotationAdd BLAST121

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili373 – 496Sequence analysisAdd BLAST124

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri64 – 107FYVE-typeAdd BLAST44

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEPI Eukaryota
ENOG41102EA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183138

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000089970

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BV36

KEGG Orthology (KO)

More...
KOi
K22235

Identification of Orthologs from Complete Genome Data

More...
OMAi
HLRARFK

Database of Orthologous Groups

More...
OrthoDBi
492485at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BV36

TreeFam database of animal gene trees

More...
TreeFami
TF331599

Family and domain databases

Conserved Domains Database

More...
CDDi
cd15752 FYVE_SlaC2-a, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR041282 FYVE_2
IPR037442 Melanophilin_FYVE-rel_dom
IPR006788 Myrip/Melanophilin
IPR010911 Rab_BD
IPR011011 Znf_FYVE_PHD
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02318 FYVE_2, 1 hit
PF04698 Rab_eff_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57903 SSF57903, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50916 RABBD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BV36-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR
60 70 80 90 100
ELLSDTAHLN ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ
110 120 130 140 150
GWICDPCHLA RVVKIGSLEW YYEHVKARFK RFGSAKVIRS LHGRLQGGAG
160 170 180 190 200
PELISEERSG DSDQTDEDGE PGSEAQAQAQ PFGSKKKRLL SVHDFDFEGD
210 220 230 240 250
SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK AEGLEEADTG
260 270 280 290 300
ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
310 320 330 340 350
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA
360 370 380 390 400
VECLLTYLEN TVVPPLAKGL GAGVRTEADV EEEALRRKLE ELTSNVSDQE
410 420 430 440 450
TSSEEEEAKD EKAEPNRDKS VGPLPQADPE VGTAAHQTNR QEKSPQDPGD
460 470 480 490 500
PVQYNRTTDE ELSELEDRVA VTASEVQQAE SEVSDIESRI AALRAAGLTV
510 520 530 540 550
KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA MAVPYLLRRK
560 570 580 590 600
FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS
Length:600
Mass (Da):65,949
Last modified:June 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i90F48D0B3250AD98
GO
Isoform 2 (identifier: Q9BV36-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-368: Missing.

Show »
Length:572
Mass (Da):62,811
Checksum:iC11EDAE008804679
GO
Isoform 3 (identifier: Q9BV36-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     186-225: Missing.
     341-368: Missing.
     430-481: Missing.

Show »
Length:480
Mass (Da):52,642
Checksum:i2F014885D1BF691F
GO
Isoform 4 (identifier: Q9BV36-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     514-551: IFLPRVAGKL...AVPYLLRRKF → ALYEGTLSLC...LNHVASCGNP
     552-600: Missing.

Show »
Length:551
Mass (Da):60,473
Checksum:i11A629FFCC76DB1D
GO
Isoform 5 (identifier: Q9BV36-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     226-368: Missing.

Show »
Length:457
Mass (Da):50,735
Checksum:i3DC8A09F42233B47
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C190H7C190_HUMAN
Melanophilin
MLPH
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JKV5C9JKV5_HUMAN
Melanophilin
MLPH
131Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JI01C9JI01_HUMAN
Melanophilin
MLPH
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C052H7C052_HUMAN
Melanophilin
MLPH
199Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3K9H7C3K9_HUMAN
Melanophilin
MLPH
360Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2D8H7C2D8_HUMAN
Melanophilin
MLPH
203Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C371H7C371_HUMAN
Melanophilin
MLPH
236Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti109L → P in BAB13984 (PubMed:14702039).Curated1
Sequence conflicti143G → R in BAG52834 (PubMed:14702039).Curated1
Sequence conflicti253G → R in AK225381 (PubMed:14702039).Curated1
Sequence conflicti577Q → R in BAB13984 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01872435R → W in GS3; abolishes RAB27A binding. 1 PublicationCorresponds to variant dbSNP:rs119473031EnsemblClinVar.1
Natural variantiVAR_015690139R → W. Corresponds to variant dbSNP:rs2292880Ensembl.1
Natural variantiVAR_015691153L → P. Corresponds to variant dbSNP:rs3751109Ensembl.1
Natural variantiVAR_015692163D → N. Corresponds to variant dbSNP:rs3751108Ensembl.1
Natural variantiVAR_015693172G → D. Corresponds to variant dbSNP:rs3751107Ensembl.1
Natural variantiVAR_038410289T → I. Corresponds to variant dbSNP:rs11883500Ensembl.1
Natural variantiVAR_015694347H → R. Corresponds to variant dbSNP:rs2292884Ensembl.1
Natural variantiVAR_015695374V → A1 PublicationCorresponds to variant dbSNP:rs3817362Ensembl.1
Natural variantiVAR_061754451P → S1 PublicationCorresponds to variant dbSNP:rs58256353Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_042158186 – 225Missing in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_055730226 – 368Missing in isoform 5. 1 PublicationAdd BLAST143
Alternative sequenceiVSP_007554341 – 368Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST28
Alternative sequenceiVSP_042159430 – 481Missing in isoform 3. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_054367514 – 551IFLPR…LRRKF → ALYEGTLSLCSEDLKHTHPD SVKSKRSRLNHVASCGNP in isoform 4. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_054368552 – 600Missing in isoform 4. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK022207 mRNA Translation: BAB13984.1
AK094168 mRNA Translation: BAG52834.1
AK296745 mRNA Translation: BAG59329.1
AK225381 mRNA No translation available.
AC104667 Genomic DNA No translation available.
AC112721 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW71112.1
BC001653 mRNA Translation: AAH01653.1
BC051269 mRNA Translation: AAH51269.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2518.1 [Q9BV36-1]
CCDS42836.1 [Q9BV36-2]
CCDS63172.1 [Q9BV36-5]
CCDS63173.1 [Q9BV36-3]

NCBI Reference Sequences

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RefSeqi
NP_001035932.1, NM_001042467.2 [Q9BV36-2]
NP_001268402.1, NM_001281473.1 [Q9BV36-3]
NP_001268403.1, NM_001281474.1 [Q9BV36-5]
NP_077006.1, NM_024101.6 [Q9BV36-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264605; ENSP00000264605; ENSG00000115648 [Q9BV36-1]
ENST00000338530; ENSP00000341845; ENSG00000115648 [Q9BV36-2]
ENST00000409373; ENSP00000386780; ENSG00000115648 [Q9BV36-3]
ENST00000410032; ENSP00000386338; ENSG00000115648 [Q9BV36-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79083

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79083

UCSC genome browser

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UCSCi
uc002vws.4 human [Q9BV36-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

MLPHbase

MLPH mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022207 mRNA Translation: BAB13984.1
AK094168 mRNA Translation: BAG52834.1
AK296745 mRNA Translation: BAG59329.1
AK225381 mRNA No translation available.
AC104667 Genomic DNA No translation available.
AC112721 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW71112.1
BC001653 mRNA Translation: AAH01653.1
BC051269 mRNA Translation: AAH51269.1
CCDSiCCDS2518.1 [Q9BV36-1]
CCDS42836.1 [Q9BV36-2]
CCDS63172.1 [Q9BV36-5]
CCDS63173.1 [Q9BV36-3]
RefSeqiNP_001035932.1, NM_001042467.2 [Q9BV36-2]
NP_001268402.1, NM_001281473.1 [Q9BV36-3]
NP_001268403.1, NM_001281474.1 [Q9BV36-5]
NP_077006.1, NM_024101.6 [Q9BV36-1]

3D structure databases

SMRiQ9BV36
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122531, 10 interactors
DIPiDIP-44046N
IntActiQ9BV36, 11 interactors
MINTiQ9BV36
STRINGi9606.ENSP00000264605

PTM databases

iPTMnetiQ9BV36
PhosphoSitePlusiQ9BV36

Polymorphism and mutation databases

BioMutaiMLPH
DMDMi32129730

Proteomic databases

jPOSTiQ9BV36
MassIVEiQ9BV36
MaxQBiQ9BV36
PaxDbiQ9BV36
PeptideAtlasiQ9BV36
PRIDEiQ9BV36
ProteomicsDBi33931
4492
79162 [Q9BV36-1]
79163 [Q9BV36-2]
79164 [Q9BV36-3]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
Q9BV36

The DNASU plasmid repository

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DNASUi
79083

Genome annotation databases

EnsembliENST00000264605; ENSP00000264605; ENSG00000115648 [Q9BV36-1]
ENST00000338530; ENSP00000341845; ENSG00000115648 [Q9BV36-2]
ENST00000409373; ENSP00000386780; ENSG00000115648 [Q9BV36-3]
ENST00000410032; ENSP00000386338; ENSG00000115648 [Q9BV36-5]
GeneIDi79083
KEGGihsa:79083
UCSCiuc002vws.4 human [Q9BV36-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79083
DisGeNETi79083
EuPathDBiHostDB:ENSG00000115648.13

GeneCards: human genes, protein and diseases

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GeneCardsi
MLPH
HGNCiHGNC:29643 MLPH
HPAiHPA014685
MalaCardsiMLPH
MIMi606526 gene
609227 phenotype
neXtProtiNX_Q9BV36
OpenTargetsiENSG00000115648
Orphaneti79478 Griscelli syndrome type 3
PharmGKBiPA134899891

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IEPI Eukaryota
ENOG41102EA LUCA
GeneTreeiENSGT00950000183138
HOGENOMiHOG000089970
InParanoidiQ9BV36
KOiK22235
OMAiHLRARFK
OrthoDBi492485at2759
PhylomeDBiQ9BV36
TreeFamiTF331599

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MLPH human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Melanophilin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
79083
PharosiQ9BV36 Tbio

Protein Ontology

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PROi
PR:Q9BV36
RNActiQ9BV36 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000115648 Expressed in 169 organ(s), highest expression level in parotid gland
ExpressionAtlasiQ9BV36 baseline and differential
GenevisibleiQ9BV36 HS

Family and domain databases

CDDicd15752 FYVE_SlaC2-a, 1 hit
Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR041282 FYVE_2
IPR037442 Melanophilin_FYVE-rel_dom
IPR006788 Myrip/Melanophilin
IPR010911 Rab_BD
IPR011011 Znf_FYVE_PHD
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF02318 FYVE_2, 1 hit
PF04698 Rab_eff_C, 1 hit
SUPFAMiSSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS50916 RABBD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMELPH_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BV36
Secondary accession number(s): B3KSS2
, B4DKW7, G5E9G5, Q9HA71
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 16, 2003
Last sequence update: June 1, 2001
Last modified: December 11, 2019
This is version 168 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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